Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Country/Region
    • Clinic Portal
      • +0034963905310
    • Request Information
    • +34 96 390 53 10
    • Part of brands: |
    InternationalInternational
    • Country/Region
      • Part of brands: |
      • We guide you
        • Fertility
          • What to do if…
        • Prevent Inherited Diseases
          • Carrier Genetic Test
        • Worry-free Pregnancy
          • NACE
          • Prenatal Diagnostics
          • Newborn Health
      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
        • Patients
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • SAT
          • POC
      • Diagnostics
      • About us
        • Igenomix Research
        • About Igenomix
        • Igenomix Worldwide
      • Academy
      • Blog
      Genomics Precision Diagnostic > Nephrology > Polycystic Kidney Disease Precision Panel

      Polycystic Kidney Disease Precision Panel

      Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid. 
      Overview
      Indication
      Clinical Utility
      Genes & Diseases
      Methodology
      References

      Overview

      • Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid. These cysts eventually deteriorate renal anatomy and physiology causing them to lose function over time. Polycystic kidney disease is classified into two distinct disorders based on the inheritance pattern: autosomal dominant PKD (ADPKD) and autosomal recessive PKF (ARPKD). ARPKD is the most aggressive form and presents with severe pulmonary insufficiency and progressive renal failure with early onset during infancy. If left untreated, ARPKD is lethal before adolescence. ADPKD usually manifests during adulthood and is the most common inherited cause of chronic kidney disease. Cystic kidneys are common causes of end-stage renal disease, both in children and adults. 

      •  

        The Igenomix Polycystic Kidney Disease Precision Panel can be used to make a directed and accurate differential diagnosis of renal cysts ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

      Indication

      • The Igenomix Polycystic Kidney Disease Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of polycystic kidneys presenting with: 
        • Gross hematuria  
        • Flank or abdominal pain    
        • Recurrent urinary tract infections 
        • Nephrolithiasis 
        • Palpable kidneys on abdominal exam 
        • Signs of chronic kidney disease (hypertension, fluid overload, uremia) 
        • Extrarenal cysts: hepatic, pancreatic, cerebral berry aneurysm 
        • Maternal oligohydramnios and Potter sequence 

      Clinical Utility

      The clinical utility of this panel is: 

      • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
      • Early initiation of treatment with a multidisciplinary team in the form of medical care with blood pressure control to prevent and delay end-stage renal disease, related complications and/or renal transplantation.  
      • Provide regular ultrasound and laboratory monitoring improving clinical management of patients, enhancing further with emerging therapeutic options.  
      • Genetic counselling session for risk assessment of asymptomatic family members according to the mode of inheritance. 

      Genes & Diseases

      Methodology

      References

      See scientific referrals

      Bergmann, C., Guay-Woodford, L. M., Harris, P. C., Horie, S., Peters, D., & Torres, V. E. (2018). Polycystic kidney disease. Nature reviews. Disease primers, 4(1), 50. https://doi.org/10.1038/s41572-018-0047-y 

      Ghata, J., & Cowley, B. D., Jr (2017). Polycystic Kidney Disease. Comprehensive Physiology, 7(3), 945–975. https://doi.org/10.1002/cphy.c160018 

      Wilson, P. (2004). Polycystic Kidney Disease. New England Journal Of Medicine, 350(2), 151-164. doi: 10.1056/nejmra022161 

      Ong, A., & Wheatley, D. (2003). Polycystic kidney disease—the ciliary connection. The Lancet, 361(9359), 774-776. doi: 10.1016/s0140-6736(03)12662-1 

      Rossetti, S., & Harris, P. (2007). Genotype–Phenotype Correlations in Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease: Figure 1. Journal Of The American Society Of Nephrology, 18(5), 1374-1380. doi: 10.1681/asn.2007010125 

      Xu, Y., Li, A., Wu, G., & Liang, C. (2017). Perspectives of Gene Therapies in Autosomal Dominant Polycystic Kidney Disease. Current gene therapy, 17(1), 43–49. https://doi.org/10.2174/1566523217666170510152808 

      Bergmann, C., Guay-Woodford, L., Harris, P., Horie, S., Peters, D., & Torres, V. (2018). Polycystic kidney disease. Nature Reviews Disease Primers, 4(1). doi: 10.1038/s41572-018-0047-y 

      descargar

      Detail description

      Download

      Request Information


      WE GUIDE YOU

      Fertility
      Inherited diseases prevention
      Healthy pregnancy

      To see the accreditation certificate, associated technical annex and list of accredited tests, click on this link.

      OUR SERVICES

      Genetic solutions
      For patients
      How to send a sample?
      User manual

      ABOUT US

      About Igenomix
      Contact
      Quality
      Complaints
      Work with us

      FOLLOW IGENOMIX

        + 96 390 53 10
        Write us
      • Argentina
      • Brazil
      • Canada
      • Chile
      • Colombia
      • Europe
      • France
      • Germany
      • India
      • Italy
      • Japan
      • Korea
      • Mexico
      • Perú
      • Russia
      • Spain
      • Taiwan
      • The Middle East
      • Turkey
      • United Kingdom
      • United States
      • Vietnam
      Country/Region

      [2021] © Igenomix Privacy policy Quality policy Legal note Cookies policyNews and Press

      Request Information

















      • We guide you
        • Fertility
          • What to do if…
        • Prevent Inherited Diseases
          • Carrier Genetic Test
        • Worry-free Pregnancy
          • NACE
          • Prenatal Diagnostics
          • Newborn Health
      • Reproductive Health
        • Specialists
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • POC
          • SAT
          • Newborn Screening
        • Patients
          • ALICE
          • EMMA
          • ERA
          • EndomeTRIO
          • EMBRACE
          • CGT
          • NACE
          • Zenit
          • PGT-A
          • PGT-M
          • SAT
          • POC
      • Diagnostics
      • About us
        • Igenomix Research
        • About Igenomix
        • Igenomix Worldwide
      • Academy
      • Blog
      • Country/Region
      • +34 96 390 53 10
      • Clinic Portal
      • Request Information

      We are using cookies to give you the best experience on our website.

      You can find out more about which cookies we are using or switch them off in settings.

      International
      Powered by  GDPR Cookie Compliance
      Privacy Overview

      This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.

      Strictly Necessary Cookies

      Strictly Necessary Cookie should be enabled at all times so that we can save your preferences for cookie settings.

      If you disable this cookie, we will not be able to save your preferences. This means that every time you visit this website you will need to enable or disable cookies again.

      3rd Party Cookies

      This website uses Google Analytics to collect anonymous information such as the number of visitors to the site, and the most popular pages.

      Keeping this cookie enabled helps us to improve our website.

      Please enable Strictly Necessary Cookies first so that we can save your preferences!

      Cookie Policy

      More information about our Cookie Policy